Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis / 中华外科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the association of matrilin-1 gene polymorphisms with adolescent idiopathic scoliosis (AIS) risk.</p><p><b>METHODS</b>This study population consisted of 419 patients with AIS and 460 healthy controls. The maximum Cobb angle of AIS patients was recorded. For initial screening, the 7 tagSNPs were genotyped in 197 cases and 172 controls. Next, we validated any significant associations in additional sample of 222 cases and 288 controls. Single-marker and haplotype analysis were employed. Genotyping was performed by PCR-RFLP method.</p><p><b>RESULTS</b>We found that allele G of rs1149048 was a significant predisposition allele of AIS (P = 0.0027, OR = 1.34 within 95% CI = 1.11 approximately 1.62), and individuals with genotype GG had a higher risk for AIS compared to AA + AG (P = 0.0008, OR = 1.61 within 95% CI = 1.22 approximately 2.12). Polymorphism of rs1149048 was also associated with curve severity in AIS patients. And a significantly higher in maximum Cobb angle was found in patients with GG genotype (P = 0.002).</p><p><b>CONCLUSIONS</b>It is concluded that the tagSNP rs1149048 polymorphism in the MATN1 promoter region is associated with both susceptibility and disease severity in AIS.</p>